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Nodular Goiter as the Presenting Symptom of DICER1 Tumor Predisposition Syndrome
Drew Burgess1, Felicia Cooper2, Rhea Birusingh3
1Harriet L. Wilkes Honors College, Florida Atlantic University, Boca Raton, USA.
Abstract:
In the context of pediatric thyroid disorders, a goiter may serve as an indication of a thyroid tumor in rare instances. In even more unusual scenarios, the cancer can exhibit features of two different categories of carcinoma types. This presentation may suggest a familial tumor syndrome. We present a previously healthy child with an unusual thyroid tumor histology that led to genetic testing and a diagnosis of DICER1 syndrome, an incredibly rare genetic disorder.
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